Found: 15
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Post-mortem MRI reveals CPT2 deficiency after sudden infant death.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Partial hypoparathyroidism associated with mitochondrial trifunctional protein deficiency.
- Published in:
- 2006
- By:
- Publication type:
- journal article
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 2, p. e1, doi. 10.1111/j.1469-8749.2009.03541.x
- By:
- Publication type:
- Article
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 118, doi. 10.1007/s00439-003-0946-0
- By:
- Publication type:
- Article
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 3, doi. 10.1002/jmd2.12243
- By:
- Publication type:
- Article
Leigh's disease due to a new mutation in the PDHX gene.
- Published in:
- Annals of Neurology, 2006, v. 59, n. 4, p. 709
- By:
- Publication type:
- Article
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 2, p. 273
- By:
- Publication type:
- Article
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 795, doi. 10.1007/s10545-012-9542-6
- By:
- Publication type:
- Article
Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
- By:
- Publication type:
- Article
LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1564, doi. 10.1002/humu.21282
- By:
- Publication type:
- Article
A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 137, doi. 10.1002/humu.20449
- By:
- Publication type:
- Article
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency (Communicated by Michel Goossens).
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 493, doi. 10.1002/humu.10201
- By:
- Publication type:
- Article
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiencyCommunicated by Michel Goossens.
- Published in:
- Human Mutation, 2003, v. 21, n. 5, p. 493, doi. 10.1002/humu.10201
- By:
- Publication type:
- Article
Enhancement of normal polymorphonuclear cells respiratory burst in ascitic fluid by fibronectin.
- Published in:
- APMIS, 1992, v. 100, n. 1-6, p. 531, doi. 10.1111/j.1699-0463.1992.tb00907.x
- By:
- Publication type:
- Article